Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Azarnouche Ardalan"'
Autor:
Agnès Choiset, Françoise Goutières, Catherine Turleau, Sylvie Girard-Orgeolet, Marguerite Prieur, Azarnouche Ardalan
Publikováno v:
American Journal of Medical Genetics Part A. :288-293
Intrachromosomal insertions are uncommon rearrangements, in which a chromosomal segment is intercalated into another part of the same chromosome. The insertion may occur in the same arm (paracentric) or in the other arm (pericentric). The cytogenetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ab8281ec2d4f76b3d98d9a3cdc9517
https://doi.org/10.1002/ajmg.a.30966
https://doi.org/10.1002/ajmg.a.30966
Autor:
Marie-France Portnoï, Azarnouche Ardalan, Gilles Roger, Jean-Louis Taillemite, Francis Gold, Nicolas Gruchy, Sarah Ducrocq, Lina Finkel, Valérie Malan, Valérie Biran-Mucignat, Sandrine Marlin, Fanny Lebas
Publikováno v:
American Journal of Medical Genetics Part A. :47-51
Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d31485681f677412e4801090c3bc44b
https://doi.org/10.1002/ajmg.a.30847
https://doi.org/10.1002/ajmg.a.30847
Autor:
Damien Sanlaville, Marie-France Portnoï, François Vialard, Azarnouche Ardalan, Alain Corré, Bernard Devauchelle, Valérie Malan, Tanguy Martin-Denavit, Marc Nouchy, François Thépot, Patrice Nizard, Luce Vue-Droy, Jean-Louis Taillemite
Publikováno v:
American Journal of Medical Genetics Part A. :325-330
Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1bad6979eb3ec93c6afc944ee6c14b9
https://doi.org/10.1002/ajmg.a.30115
https://doi.org/10.1002/ajmg.a.30115
Autor:
Dominique Vidaud, Pascale Fanen, Azarnouche Ardalan, Florence Niel, Elisabeth Flori, Michel Vidaud, Michel Goossens, Emmanuelle Girodon, Bruno Costes, Patricia Conteville
Publikováno v:
Scopus-Elsevier
Cystic fibrosis (CF; MIM No. 219700), the most common autosomal recessive disease in Caucasians (1), is caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR; MIM No. 602421) (2). The disease may be revealed by fetal b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2bdd4be8988c4de3a0940a5e2288523
https://doi.org/10.1093/clinchem/46.9.1417
https://doi.org/10.1093/clinchem/46.9.1417
Autor:
Nouha Bouayed-Abdelmoula, François Vialard, Jamel Chelly, Julie Stephann, Myriam Mirc, Patrick Daoud, Ramzi Zemni, Marc Nouchy, Henry Castaing, Jean-Louis Taillemite, Azarnouche Ardalan, Marie-France Portnoï
Publikováno v:
Clinical Genetics. 58:116-122
We describe a female infant with severe abnormal phenotype with a de novo partial duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6a86809ad66554e078be196726e27ed
https://doi.org/10.1034/j.1399-0004.2000.580205.x
https://doi.org/10.1034/j.1399-0004.2000.580205.x
Autor:
Jean Marie Lebrun, Anouck Schneider, Azarnouche Ardalan, Nathalie Collot, Pierre Mauran, Nathalie Bednarek, Martine Doco-Fenzy, Florence Dastot-Le Moal, Sylvie Bock, Juliette Albuisson, Stéphanie Struski, Dominique Gaillard, Michel Goossens
Publikováno v:
American journal of medical genetics. Part A. 140(3)
Partial trisomy of the region 12q24.1 q24.2 is rare and usually associated with other rearrangements. We report on the clinical and cytogenetic findings in a girl with a pure de novo direct duplication dup(12)(q24.1 q24.2). She had developmental and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c41349172f6af6155f810ed5112094c
https://pubmed.ncbi.nlm.nih.gov/16411218
https://pubmed.ncbi.nlm.nih.gov/16411218
Autor:
Joaquina Silva, Alberto Barros, Susana Fernandes, Mário Sousa, Ana Grangeia, Luis Ferrás, Florence Niel, Azarnouche Ardalan, Filipa Carvalho, Emmanuelle Girodon
Publikováno v:
Human reproduction (Oxford, England). 19(11)
BACKGROUND: Cystic fibrosis conductance transmembrane regulator (CFTR) gene mutations and IVS8 poly(T) variants in Portuguese patients with bilateral (CBAVD) and unilateral (CUAVD) congenital absence of the vas deferens remain to be evaluated. METHOD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afa749ec6ae85438d9e9885485f608f1
https://pubmed.ncbi.nlm.nih.gov/15333598
https://pubmed.ncbi.nlm.nih.gov/15333598
Autor:
Damien, Sanlaville, François, Vialard, François, Thépot, Luce, Vue-Droy, Azarnouche, Ardalan, Patrice, Nizard, Alain, Corré, Bernard, Devauchelle, Tanguy, Martin-Denavit, Marc, Nouchy, Valérie, Malan, Jean-Louis, Taillemite, Marie-France, Portnoï
Publikováno v:
American journal of medical genetics. Part A. (3)
Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dea4ab834ee0ae6211ed7c3d7bc1f998
https://pubmed.ncbi.nlm.nih.gov/15216557
https://pubmed.ncbi.nlm.nih.gov/15216557
Autor:
Ana Grangeia, Florence Niel, Filipa Carvalho, Susana Fernandes, Azarnouche Ardalan, Emmanuelle Girodon, Joaquina Silva, Luis Ferrs, Mrio Sousa, Alberto Barros
Publikováno v:
Human Reproduction; Nov2004, Vol. 19 Issue 11, p2502-2508, 7p
Autor:
Muriel Payet, Christel Thauvin-Robinet, Nabila Dhouibi, Laurence Faivre, Bernard Aral, Marie Eliade, Candace Bensignor, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Azarnouche Ardalan, Sylviane Ragot, Nathalie Marle, Clémence Ragon, Laurent Desch, Julien Thevenon, Patrick Callier
Publikováno v:
Molecular Cytogenetics
Background Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS). Case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a88262cdf03040a44f2333b67d42a64d